Incidental Mutation 'IGL03034:Olfr1447'
ID408570
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1447
Ensembl Gene ENSMUSG00000060303
Gene Nameolfactory receptor 1447
SynonymsGA_x6K02T2RE5P-3231251-3230331, MOR202-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL03034
Quality Score
Status
Chromosome19
Chromosomal Location12899434-12903743 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 12901757 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 8 (T8A)
Ref Sequence ENSEMBL: ENSMUSP00000147020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071484] [ENSMUST00000208343] [ENSMUST00000216989]
Predicted Effect possibly damaging
Transcript: ENSMUST00000071484
AA Change: T8A

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000071419
Gene: ENSMUSG00000060303
AA Change: T8A

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 5.3e-50 PFAM
Pfam:7TM_GPCR_Srsx 36 306 2.1e-7 PFAM
Pfam:7tm_1 42 291 7.4e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000208343
AA Change: T8A

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216989
AA Change: T8A

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220222
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik C T 11: 81,890,082 probably benign Het
Ablim2 A G 5: 35,828,165 T269A probably benign Het
Asgr2 G T 11: 70,098,263 G178W probably damaging Het
Chtf18 A G 17: 25,727,346 probably benign Het
Cnmd C T 14: 79,641,928 A257T probably benign Het
Cox7a1 A G 7: 30,185,268 probably benign Het
Cpox C T 16: 58,675,355 T345M probably damaging Het
Crisp1 T C 17: 40,307,728 T81A probably benign Het
Dcc T A 18: 71,575,143 R501* probably null Het
Dlx6 A C 6: 6,863,807 Q143P probably benign Het
Dpp10 T A 1: 123,341,619 Y687F probably damaging Het
Eif2b1 A G 5: 124,571,831 V228A probably benign Het
Enpep T C 3: 129,298,950 D528G probably damaging Het
Fbxo6 G A 4: 148,146,122 Q228* probably null Het
Iars T A 13: 49,690,489 N146K possibly damaging Het
Kctd9 T A 14: 67,734,279 S268T probably benign Het
Kifap3 G A 1: 163,888,277 V749M probably benign Het
Mdm4 T C 1: 133,011,071 D94G probably damaging Het
Mllt10 T G 2: 18,065,036 M1R probably null Het
Mtcl1 T C 17: 66,344,198 Y1424C probably damaging Het
Mybpc2 A T 7: 44,511,897 I549N possibly damaging Het
Myocd T C 11: 65,218,685 T87A probably benign Het
Nr3c2 T G 8: 77,187,638 Y824* probably null Het
Olfr1270 A G 2: 90,149,833 Y58H probably damaging Het
Olfr1437 T C 19: 12,322,654 T58A possibly damaging Het
Olfr551 G A 7: 102,587,940 H268Y probably benign Het
Olfr791 A T 10: 129,526,658 I144F probably benign Het
Omg T A 11: 79,502,121 T304S possibly damaging Het
Pde3a G A 6: 141,492,400 probably benign Het
Phf20l1 A G 15: 66,597,403 K129E probably damaging Het
Phka2 G T X: 160,577,550 E858* probably null Het
Pp2d1 T C 17: 53,508,053 T548A possibly damaging Het
Prr14l G A 5: 32,827,438 A1571V possibly damaging Het
Rbms3 A G 9: 117,251,811 probably benign Het
Sparcl1 T C 5: 104,093,237 E107G probably damaging Het
Stra6l A G 4: 45,885,392 D620G probably benign Het
Traf3ip2 A T 10: 39,626,219 K121I probably damaging Het
Ttc34 T C 4: 154,861,183 S734P probably damaging Het
Zfp953 C T 13: 67,343,462 C142Y probably damaging Het
Zfp955b T A 17: 33,302,168 C204S probably benign Het
Other mutations in Olfr1447
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Olfr1447 APN 19 12901355 missense probably benign 0.40
IGL01704:Olfr1447 APN 19 12901739 missense probably benign 0.01
IGL01767:Olfr1447 APN 19 12901748 missense probably benign 0.12
IGL01969:Olfr1447 APN 19 12901052 missense possibly damaging 0.69
IGL02435:Olfr1447 APN 19 12901027 missense probably damaging 1.00
IGL02666:Olfr1447 APN 19 12900857 missense probably benign
IGL03221:Olfr1447 APN 19 12901541 missense probably damaging 1.00
R0315:Olfr1447 UTSW 19 12901234 missense possibly damaging 0.66
R0550:Olfr1447 UTSW 19 12901800 splice site probably null
R0729:Olfr1447 UTSW 19 12900895 missense probably damaging 0.97
R1381:Olfr1447 UTSW 19 12900956 missense probably benign 0.00
R1669:Olfr1447 UTSW 19 12901288 missense possibly damaging 0.79
R1775:Olfr1447 UTSW 19 12901235 missense probably benign 0.02
R1918:Olfr1447 UTSW 19 12900851 makesense probably null
R2377:Olfr1447 UTSW 19 12900853 missense possibly damaging 0.45
R2406:Olfr1447 UTSW 19 12901627 missense probably benign 0.11
R2471:Olfr1447 UTSW 19 12901315 missense probably benign 0.00
R2484:Olfr1447 UTSW 19 12901641 missense probably benign 0.06
R2656:Olfr1447 UTSW 19 12901666 missense probably benign 0.37
R3888:Olfr1447 UTSW 19 12901133 missense probably benign 0.00
R4250:Olfr1447 UTSW 19 12901004 missense probably benign 0.09
R4545:Olfr1447 UTSW 19 12901268 nonsense probably null
R4895:Olfr1447 UTSW 19 12900887 missense probably damaging 1.00
R4956:Olfr1447 UTSW 19 12901599 missense probably damaging 0.99
R4991:Olfr1447 UTSW 19 12901451 missense probably damaging 0.98
R5044:Olfr1447 UTSW 19 12901001 missense probably damaging 1.00
R5165:Olfr1447 UTSW 19 12901200 missense probably benign 0.00
R6025:Olfr1447 UTSW 19 12901670 missense probably benign 0.10
R6135:Olfr1447 UTSW 19 12901439 missense probably damaging 0.97
R6459:Olfr1447 UTSW 19 12901005 missense possibly damaging 0.94
R6733:Olfr1447 UTSW 19 12901241 missense probably damaging 1.00
R6789:Olfr1447 UTSW 19 12901289 missense probably benign 0.21
R6923:Olfr1447 UTSW 19 12901312 missense probably benign 0.04
R7310:Olfr1447 UTSW 19 12901273 missense probably damaging 1.00
Posted On2016-08-02